Mutagenetix > Incidental Mutation

Incidental Mutation 'R8355:Bnc1'

660275

Institutional Source

Beutler Lab

Gene Symbol

Bnc1

Ensembl Gene

ENSMUSG00000025105

Gene Name

basonuclin 1

Synonyms

MMRRC Submission

067869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81966672-81992292 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 81968876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 814 (S814A)

Ref Sequence

ENSEMBL: ENSMUSP00000026096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026096]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026096
AA Change: S814A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026096
Gene: ENSMUSG00000025105
AA Change: S814A

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	313	327	N/A	INTRINSIC
ZnF_C2H2	354	377	1.43e-1	SMART
ZnF_C2H2	382	411	6.75e0	SMART
low complexity region	505	514	N/A	INTRINSIC
low complexity region	541	554	N/A	INTRINSIC
low complexity region	570	583	N/A	INTRINSIC
low complexity region	619	633	N/A	INTRINSIC
ZnF_C2H2	716	739	1.47e-3	SMART
ZnF_C2H2	744	771	5.62e0	SMART
low complexity region	855	876	N/A	INTRINSIC
ZnF_C2H2	924	947	3.11e-2	SMART
ZnF_C2H2	952	979	8.09e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (48/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Alternative splicing of this gene results in multiple transcript variants, and multiple polyadenylation sites are indicated.[provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit thinning and delayed wound healing of the corneal epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,692,752 (GRCm38)	H145Q	probably benign	Het
Acsf2	A	T	11: 94,570,624 (GRCm38)	M293K	probably benign	Het
Ak9	G	A	10: 41,399,704 (GRCm38)	R1112Q		Het
Ano8	T	C	8: 71,480,566 (GRCm38)		probably benign	Het
Ap3b2	A	T	7: 81,473,103 (GRCm38)	V462E	probably damaging	Het
Arid1a	T	C	4: 133,720,863 (GRCm38)	Q498R	unknown	Het
AW011738	C	A	4: 156,203,380 (GRCm38)		probably benign	Het
Bhlhe41	T	A	6: 145,865,302 (GRCm38)		probably null	Het
Bnip5	T	A	17: 28,903,275 (GRCm38)	Q414L	probably damaging	Het
Cage1	A	T	13: 38,019,249 (GRCm38)	L613H	probably damaging	Het
Camk1g	T	C	1: 193,351,047 (GRCm38)	I231V	probably damaging	Het
Catspere2	T	C	1: 178,017,710 (GRCm38)	Y99H	possibly damaging	Het
Ccdc50	A	G	16: 27,417,351 (GRCm38)	Y145C	probably benign	Het
Cdcp1	A	G	9: 123,173,823 (GRCm38)	S728P	probably benign	Het
Chrm3	A	T	13: 9,878,610 (GRCm38)	M130K	probably damaging	Het
Csf1r	T	C	18: 61,128,150 (GRCm38)	F766S	probably damaging	Het
Dact3	A	G	7: 16,883,200 (GRCm38)	D108G	probably damaging	Het
Dnaaf5	ACCCAGCACCTGGAGATCGTCC	ACC	5: 139,161,859 (GRCm38)		probably null	Het
Dnah8	A	C	17: 30,695,178 (GRCm38)	L1099F	possibly damaging	Het
Ggnbp2	C	T	11: 84,837,989 (GRCm38)		probably null	Het
Gk5	T	C	9: 96,150,786 (GRCm38)	V274A	possibly damaging	Het
Gnpat	T	C	8: 124,870,840 (GRCm38)	F47S	probably benign	Het
Gsap	G	T	5: 21,251,019 (GRCm38)	G374*	probably null	Het
Gtf2h2	A	T	13: 100,468,995 (GRCm38)	F368Y	possibly damaging	Het
Gvin1	A	T	7: 106,158,105 (GRCm38)	W2386R	possibly damaging	Het
Ighe	A	T	12: 113,271,547 (GRCm38)	L331*	probably null	Het
Iqank1	C	A	15: 76,034,224 (GRCm38)	Q87K	probably benign	Het
Itch	T	A	2: 155,210,582 (GRCm38)		probably null	Het
Lars2	G	A	9: 123,454,715 (GRCm38)	A683T	probably damaging	Het
Lin7a	C	T	10: 107,382,636 (GRCm38)	R14C	probably damaging	Het
Lrp2	C	T	2: 69,516,484 (GRCm38)	S806N	probably damaging	Het
Lrrc8e	T	A	8: 4,234,018 (GRCm38)	M81K	probably benign	Het
Mcm3ap	C	A	10: 76,493,501 (GRCm38)	T1172K	probably benign	Het
Mrm3	A	T	11: 76,250,338 (GRCm38)	M391L	possibly damaging	Het
Myo9a	T	C	9: 59,909,847 (GRCm38)	S2278P	probably damaging	Het
Ncln	T	C	10: 81,487,869 (GRCm38)	K511E	probably damaging	Het
Or2y17	G	T	11: 49,340,765 (GRCm38)	V78L	possibly damaging	Het
Or8b101	A	G	9: 38,108,962 (GRCm38)	K87R	probably benign	Het
Pcdhb10	G	T	18: 37,412,081 (GRCm38)	G70V	probably damaging	Het
Phf24	A	G	4: 42,933,735 (GRCm38)	E39G	probably benign	Het
Plat	C	A	8: 22,771,742 (GRCm38)	S52*	probably null	Het
Pramel52-ps	T	C	5: 94,383,913 (GRCm38)	C219R	probably damaging	Het
Ptpru	C	A	4: 131,808,500 (GRCm38)	G389C	probably damaging	Het
Rnpep	T	C	1: 135,267,267 (GRCm38)	D407G	probably damaging	Het
Rttn	G	A	18: 89,028,892 (GRCm38)	V893I	probably benign	Het
Slit1	A	G	19: 41,646,034 (GRCm38)	L428P	probably damaging	Het
Tet1	T	A	10: 62,816,450 (GRCm38)	L1596F	possibly damaging	Het
Thsd7b	T	C	1: 129,595,879 (GRCm38)	C140R	probably damaging	Het
Usp17le	A	T	7: 104,769,545 (GRCm38)	M130K	possibly damaging	Het
Vmn2r92	T	G	17: 18,184,799 (GRCm38)	I735S	probably damaging	Het
Zbtb42	A	T	12: 112,679,535 (GRCm38)	Y48F	probably damaging	Het
Zbtb43	C	T	2: 33,455,108 (GRCm38)	G35D	possibly damaging	Het
Zfp1005	T	A	2: 150,267,956 (GRCm38)	C189S	unknown	Het

Other mutations in Bnc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01123:Bnc1	APN	7	81,973,707 (GRCm38)	nonsense	probably null
IGL01293:Bnc1	APN	7	81,974,489 (GRCm38)	missense	probably damaging	0.99
IGL02064:Bnc1	APN	7	81,973,503 (GRCm38)	missense	probably benign	0.00
IGL02529:Bnc1	APN	7	81,977,368 (GRCm38)	missense	probably damaging	0.99
IGL03087:Bnc1	APN	7	81,974,642 (GRCm38)	missense	possibly damaging	0.86
R0088:Bnc1	UTSW	7	81,978,498 (GRCm38)	missense	possibly damaging	0.52
R0312:Bnc1	UTSW	7	81,977,324 (GRCm38)	missense	possibly damaging	0.95
R0631:Bnc1	UTSW	7	81,974,366 (GRCm38)	missense	probably damaging	0.99
R0924:Bnc1	UTSW	7	81,978,408 (GRCm38)	splice site	probably benign
R0928:Bnc1	UTSW	7	81,973,502 (GRCm38)	missense	probably benign
R1967:Bnc1	UTSW	7	81,973,636 (GRCm38)	missense	probably benign	0.03
R2243:Bnc1	UTSW	7	81,974,073 (GRCm38)	missense	possibly damaging	0.59
R2404:Bnc1	UTSW	7	81,968,715 (GRCm38)	missense	probably benign	0.08
R4079:Bnc1	UTSW	7	81,973,760 (GRCm38)	missense	probably damaging	0.99
R4416:Bnc1	UTSW	7	81,968,960 (GRCm38)	missense	probably benign
R5038:Bnc1	UTSW	7	81,968,714 (GRCm38)	missense	probably damaging	1.00
R5055:Bnc1	UTSW	7	81,974,415 (GRCm38)	missense	probably damaging	0.99
R7083:Bnc1	UTSW	7	81,973,310 (GRCm38)	missense	probably damaging	1.00
R7117:Bnc1	UTSW	7	81,973,361 (GRCm38)	missense	possibly damaging	0.92
R7151:Bnc1	UTSW	7	81,973,307 (GRCm38)	missense	possibly damaging	0.71
R7386:Bnc1	UTSW	7	81,974,492 (GRCm38)	missense	possibly damaging	0.81
R7950:Bnc1	UTSW	7	81,973,502 (GRCm38)	missense	probably benign
R8773:Bnc1	UTSW	7	81,973,971 (GRCm38)	missense	probably damaging	1.00
R9083:Bnc1	UTSW	7	81,974,898 (GRCm38)	missense	probably benign
Z1176:Bnc1	UTSW	7	81,974,542 (GRCm38)	missense	probably damaging	0.97
Z1177:Bnc1	UTSW	7	81,968,470 (GRCm38)	missense	probably damaging	0.97
Z1186:Bnc1	UTSW	7	81,973,259 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CATCACTGTCCTCCATAAGGG -3'
(R):5'- AAGCCACTCACCTCTGACTG -3'

Sequencing Primer
(F):5'- TCCTCCATAAGGGCAGTGC -3'
(R):5'- GTCTGTTCACTCTTGCAGACACAG -3'

Posted On

2021-01-18